ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.671-15T>A (rs80358058)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445299 SCV000523613 likely benign not specified 2016-01-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000589215 SCV000636072 likely benign not provided 2018-03-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589215 SCV000699286 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.671-15T>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 63702 control chromosomes. Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign or VUS. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance VUS - possibly benign variant until additional information becomes available.
Color RCV000775185 SCV000909401 likely benign Hereditary cancer-predisposing syndrome 2018-01-08 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112764 SCV000145656 uncertain significance Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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